Anauxetic发育不良
Anauxetic dysplasia
ORPHA:93347疾病
定义 英文原文（暂无中文）
A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.
别名
脊椎干骺端发育不良，无刺激型
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| RMRP | RNA component of mitochondrial RNA processing endoribonuclease | Disease-causing germline mutation(s) in |
| POP1 | POP1 ribonuclease P/MRP subunit | Disease-causing germline mutation(s) (loss of function) in |
| RMP64 | ribonuclease MRP subunit p64 | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:607095OMIM:617396OMIM:618853MONDO:0011773GARD:9657ICD-10 Q77.7ICD-11 LD24.3ClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）